Rs1801282
| Associated with T2D and fat metabolism. |
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801282 |
| PheGenI | rs1801282 |
| nextbio | rs1801282 |
| hapmap | rs1801282 |
| 1000 genomes | rs1801282 |
| hgdp | rs1801282 |
| ensembl | rs1801282 |
| gopubmed | rs1801282 |
| geneview | rs1801282 |
| scholar | rs1801282 |
| rs1801282 | |
| pharmgkb | rs1801282 |
| gwascentral | rs1801282 |
| openSNP | rs1801282 |
| 23andMe | rs1801282 |
| 23andMe all | rs1801282 |
| SNP Nexus | |
| SNPshot | rs1801282 |
| SNPdbe | rs1801282 |
| MSV3d | rs1801282 |
| Gene | PPARG |
| Merged from | Rs17241090 |
| Chromosome | 3 |
| Orientation | plus |
| Position | 12393125 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 3 |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0.1 | common in clinvar |
| (C;G) | 3 | watch out for high fat in diet |
| (G;G) | 3 | watch out for high fat in diet |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
rs1801282 has been reported to be associated with metabolic syndrome, but other studies have not been able to replicate any strong or significant effect. [PMID 18959602]
[PMID 17554300] The association between type-1 diabetes and SNP rs1801282 is mentioned as being replicated in
[PMID 18280041] rs1801282 and risk of cognitive decline in elders? Maybe with diabetes.
[PMID 19228871] A ten-year study of 679 male patients with symptomatic coronary artery disease found that rs1801282(G) carriers had a much lower (10 year) cardiovascular risk, with the hazard ratio estimated to be 0.10 (CI: 0.01-0.70, p = 0.02) for ischemic heart disease and 0.24 for vascular death (CI: 0.08-0.74, p = 0.013) per copy of the allele.
23andMe blog carriers could be informed that they really need to watch out for high fat in their diets
| Venter snp | |
|---|---|
| Source | plos |
| Gene | PPARG |
| allele | G |
| frequency | 0.075 |
| sift | |
| HuRef | 1103656026969 |
| Disease Association | Variation in PPARG is associated with carotid intimal medial thickness 1 (CIMT1) (MIM:609338). CIMT is a measure of atherosclerosis that is independently associated with traditional atherosclerotic cardiovascular disease risk factors and coronary atherosclerotic burden. 35 to 45% of the variability in multivariable-adjusted CIMT is explained by genetic factors. |
| Neighbor | rs17241090 |
| Distance | 1 |
| GWAS snp | |
|---|---|
| PMID | [PMID 17463246] |
| Trait | Type 2 diabetes |
| Title | Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels |
| Risk Allele | C |
| P-val | 0.0000019999999999999999 |
| Odds Ratio | 1.14 [1.08-1.20] |
| GWAS snp | |
|---|---|
| PMID | [PMID 17463248] |
| Trait | Type 2 diabetes |
| Title | A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants |
| Risk Allele | C |
| P-val | 0.0000019999999999999999 |
| Odds Ratio | 1.14 [1.08-1.20] |
| GWAS snp | |
|---|---|
| PMID | [PMID 17463249] |
| Trait | Type 2 diabetes |
| Title | Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes |
| Risk Allele | C |
| P-val | 0.0000019999999999999999 |
| Odds Ratio | 1.14 [1.08-1.20] |
[PMID 18972257] Comparison of genetic risk in three candidate genes (TCF7L2, PPARG, KCNJ11) with traditional risk factors for type 2 diabetes in a population-based study--the HUNT study
[PMID 18996470] Rapid and cost effective genotyping method for polymorphisms in PPARG, PPARGC1 and TCF7L2 genes
[PMID 19543210] PPARG Genotype Accounts for Part of Individual Variation in Body Weight Reduction in Response to Calorie Restriction
[PMID 19644638] No association between polymorphisms of proliferator-activated receptor-gamma gene and peak bone mineral density variation in Chinese nuclear families
[PMID 19720797] Impact of The PPAR-{gamma}2 Pro12Ala polymorphism and ACE inhibitor therapy on new-onset microalbuminuria in type 2 Diabetes: evidence from Benedict
[PMID 19733160] Gender specific effect of Pro12Ala polymorphism in Peroxisome Proliferator-Activated Receptorgamma-2 gene on obesity risk and leptin levels in a Tunisian population
[PMID 19745552] Pro12Ala Polymorphism of the Peroxisome ProliferatorActivated Receptor-gamma Gene is Associated With Metabolic Syndrome and Surrogate Measures of Insulin Resistance in Healthy Men
[PMID 20043145] Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study
[PMID 20179158] The Association Between the Peroxisome Proliferator-Activated Receptor-{gamma}2 (PPARG2) Pro12Ala Gene Variant and Type 2 Diabetes Mellitus: A HuGE Review and Meta-Analysis
[PMID 20596649] PPARgamma polymorphisms and cancer risk: A meta-analysis involving 32,138 subjects
[PMID 21178094] A Two-Step Association Study Identifies CAV2 rs2270188 Single Nucleotide Polymorphism Interaction with Fat Intake in Type 2 Diabetes Risk
[PMID 21263402] Association of PPARG and LPIN1 gene polymorphisms with metabolic syndrome and type 2 diabetes
[PMID 21968139] Polymorphism of peroxisome proliferator-activated receptor ? (PPAR?) Pro12Ala in the Iranian population: Relation with insulin resistance and response to treatment with pioglitazone in type 2 diabetes
[PMID 22091247] Genotyping of peroxisome proliferator-activated receptor gamma (PPAR-?) polymorphism (Pro12Ala) in Iranian population
[PMID 22419714] Effect of Type 2 Diabetes Predisposing Genetic Variants on Colorectal Cancer Risk
[PMID 22509538] [Meta-analysis of the association of Pro12Ala polymorphism of peroxisome proliferator activated receptor gamma gene with type 2 diabetes in Chinese Han population]
[PMID 22515931] Association of the PPARG Pro12Ala polymorphism with type 2 diabetes and incident coronary heart disease in a Hong Kong Chinese population
[PMID 22569928] Analysis of common type 2 diabetes mellitus genetic risk factors in new-onset diabetes after transplantation in kidney transplant patients medicated with tacrolimus
| ClinVar | |
|---|---|
| Risk | rs1801282(G;G) |
| Normal | rs1801282(C;C) |
| Significance | 5 |
| Disease | |
| ClinVar | info |
| Gene | PPARG |
| CLNDBN | |
| Reversed | 0 |
| CLNHGVS | NC_000003.11:g.12393125C>G |
| CLNSRC | |
[PMID 16713673] Variations in the peroxisome proliferator-activated receptor-gamma gene and melanoma risk.
[PMID 17094261] Effect of the peroxisome proliferators-activated receptor (PPAR) gamma 3 gene on BMI in 1,210 school students from Morelos, Mexico.
[PMID 17187763] Analysis of PGC-1alpha variants Gly482Ser and Thr612Met concerning their PPARgamma2-coactivation function.
[PMID 17213274] Effects of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone.
[PMID 17348446] Nested case-control study of energy regulation candidate gene single nucleotide polymorphisms and breast cancer.
[PMID 17355643] Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population.
[PMID 17570749] Genetic prediction of future type 2 diabetes.
[PMID 17786212] Heterogeneity in meta-analyses of genome-wide association investigations.
[PMID 17825092] Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography.
[PMID 17903291] The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports.
[PMID 17903298] Genome-wide association with diabetes-related traits in the Framingham Heart Study.
[PMID 17903300] Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.
[PMID 18091023] SNPs in PPARG associate with type 2 diabetes and interact with physical activity.
[PMID 18160840] The association of Pro12Ala polymorphism of peroxisome proliferator-activated receptor-gamma gene with serum osteoprotegerin levels in healthy Korean women.
[PMID 18162508] Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population.
[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.
[PMID 18282109] Adaptations to climate in candidate genes for common metabolic disorders.
[PMID 18288282] Genetic polymorphisms of peroxisome proliferator-activated receptors and the risk of cardiovascular morbidity and mortality in a community-based cohort in washington county, Maryland.
[PMID 18304332] No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins.
[PMID 18319073] Using the optimal receiver operating characteristic curve to design a predictive genetic test, exemplified with type 2 diabetes.
[PMID 18340007] Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia.
[PMID 18372903] Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
[PMID 18401448] PPAR Genomics and Pharmacogenomics: Implications for Cardiovascular Disease.
[PMID 18426861] Association analysis of type 2 diabetes Loci in type 1 diabetes.
[PMID 18426866] Association of FTO with obesity-related traits in the Cebu Longitudinal Health and Nutrition Survey (CLHNS) Cohort.
[PMID 18498634] The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.
[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 18533027] Worldwide population differentiation at disease-associated SNPs.
[PMID 18591388] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
[PMID 18598350] Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18678618] Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes.
[PMID 18689899] Exchangeable models of complex inherited diseases.
[PMID 18694974] Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.
[PMID 18707223] PPARG by dietary fat interaction influences bone mass in mice and humans.
[PMID 18782870] Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.
[PMID 18787887] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 18806092] Perilipin polymorphism interacts with dietary carbohydrates to modulate anthropometric traits in hispanics of Caribbean origin.
[PMID 18852197] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 18992148] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
[PMID 18992263] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.
[PMID 19002430] Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.
[PMID 19020323] Genotype score in addition to common risk factors for prediction of type 2 diabetes.
[PMID 19056611] Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
[PMID 19096518] Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19161620] An open access database of genome-wide association results.
[PMID 19178525] PPARgamma Pro12Ala Pro/Pro and resistin SNP-420 G/G genotypes are synergistically associated with plasma resistin in the Japanese general population.
[PMID 19207020] Meta-analysis in genome-wide association studies.
[PMID 19223982] Genetic Variability of RXRB, PPARA, and PPARG in Wegener's Granulomatosis.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 19279076] Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.
[PMID 19323962] Genome-wide association studies in type 2 diabetes.
[PMID 19324937] Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults.
[PMID 19341491] Genome-based prediction of common diseases: methodological considerations for future research.
[PMID 19360113] The Role of the PGC1alpha Gly482Ser Polymorphism in Weight Gain due to Intensive Diabetes Therapy.
[PMID 19401414] Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
[PMID 19455305] No association of multiple type 2 diabetes loci with type 1 diabetes.
[PMID 19460916] Genetic architecture of type 2 diabetes: recent progress and clinical implications.
[PMID 19502414] Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.
[PMID 19526209] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
[PMID 19567509] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
[PMID 19587357] A systematic meta-analysis of genetic association studies for diabetic retinopathy.
[PMID 19602701] Underlying genetic models of inheritance in established type 2 diabetes associations.
[PMID 19603096] An analysis of growth, differentiation and apoptosis genes with risk of renal cancer.
[PMID 19634985] Peroxisome proliferator-activated receptor-gamma (PPARgamma) Pro12Ala polymorphism and risk for pediatric obesity.
[PMID 19660836] APOE dependent-association of PPAR-gamma genetic variants with Alzheimer's disease risk.
[PMID 19846176] PPARG and ADIPOQ gene polymorphisms increase type 2 diabetes mellitus risk in Asian Indian Sikhs: Pro12Ala still remains as the strongest predictor.
[PMID 19862325] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
[PMID 19931040] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.
[PMID 19956539] How many genetic variants remain to be discovered?
[PMID 20017978] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.
[PMID 20018041] The effect of multiple genetic variants in predicting the risk of type 2 diabetes.
[PMID 20018066] Epistatic interactions of CDKN2B-TCF7L2 for risk of type 2 diabetes and of CDKN2B-JAZF1 for triglyceride/high-density lipoprotein ratio longitudinal change: evidence from the Framingham Heart Study.
[PMID 20043853] Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.
[PMID 20049090] Association between type 2 diabetes loci and measures of fatness.
[PMID 20075150] Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.
[PMID 20079163] Effect of genetic variants in KCNJ11, ABCC8, PPARG and HNF4A loci on the susceptibility of type 2 diabetes in Chinese Han population.
[PMID 20144327] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.
[PMID 20161779] Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
[PMID 20424228] Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians.
[PMID 20437058] The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.
[PMID 20580778] An age-dependent diet-modified effect of the PPARgamma Pro12Ala polymorphism in children.
[PMID 20712903] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
[PMID 20811626] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.
[PMID 20930717] D2 Thr92Ala and PPARgamma2 Pro12Ala polymorphisms interact in the modulation of insulin resistance in type 2 diabetic patients.
[PMID 21252350] Variants of the human PPARG locus and the susceptibility to chronic periodontitis.
[PMID 21278902] Genetic risk profiling for prediction of type 2 diabetes.
[PMID 21283728] Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.
[PMID 21487230] Effects of peroxisome proliferator-activated receptors, dietary fat intakes and gene-diet interactions on peak particle diameters of low-density lipoproteins.
[PMID 21710534] Association of peroxisome proliferator-activated receptor gamma polymorphisms with inflammatory bowel disease in a Hungarian cohort.
[PMID 21756892] PPARG gene promoter polymorphism is associated with non-traumatic hip fracture risk in the elderly Slovenian population: a pilot study.
[PMID 21834909] A replication study of the IRS1, CAPN10, TCF7L2, and PPARG gene polymorphisms associated with type 2 diabetes in two different populations of Mexico.
[PMID 22023374] Application of back propagation artificial neural network on genetic variants in adiponectin ADIPOQ, peroxisome proliferator-activated receptor-gamma, and retinoid X receptor-alpha genes and type 2 diabetes risk in a Chinese Han population.
[PMID 22179955] Genetic predictors of weight loss and weight regain after intensive lifestyle modification, metformin treatment, or standard care in the Diabetes Prevention Program.
[PMID 22377712] Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.
[PMID 22377714] Impact of common type 2 diabetes risk gene variants on future type 2 diabetes in the non-diabetic population in Korea.
[PMID 22378291] PPARgamma2 gene Pro12Ala and PPARalpha gene Leu162Val single nucleotide polymorphisms interact with dietary intake of fat in determination of plasma lipid concentrations.
[PMID 22410809] Association of PPAR-gamma gene polymorphisms with obesity and obesity-associated phenotypes in north indian population.
[PMID 22528626] Lifestyle factors modify obesity risk linked to PPARG2 and FTO variants in an elderly population: a cross-sectional analysis in the SUN Project.
| GWAS snp | |
|---|---|
| PMID | [PMID 22581228] |
| Trait | |
| Title | A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. |
| Risk Allele | |
| P-val | 2E-7 |
| Odds Ratio | None None |
[PMID 23036708] Association of MTHFR and PPARγ2 genes polymorphism in relation to type 2 diabetes mellitus cases among north Indian population
| GET Evidence | |
|---|---|
| PPARG-P12A | |
| aa_change | Pro12Ala |
| aa_change_short | P12A |
| impact | not reviewed |
| qualified_impact | Moderate clinical importance, Uncertain not reviewed |
| overall_frequency | 0.0886782 |
| summary | |
[PMID 23386649] Common Genetic Variants in Peroxisome Proliferator-Activated Receptor-γ (PPARG) and Type 2 Diabetes Risk Among Women's Health Initiative Postmenopausal Women
[PMID 23448101] Does PPARγ2 Gene Pro12Ala Polymorphism Affect Nonalcoholic Fatty Liver Disease Risk? Evidence from a Meta-Analysis
[PMID 23559865] Association of Pro12Ala polymorphism in peroxisome proliferator activated receptor gamma with proliferative diabetic retinopathy
[PMID 23633103] Association of Pro12Ala (rs1801282) variant of PPAR gamma with Rheumatoid Arthritis in a Pakistani population
